A hereditary condition resulting from a break in the choroid.
A hereditary condition in which inflammation of the retina can result in blindness.
Retinitis pigmentosa (RP) or “more appropriately named rod-cone generalized dystrophy, is a varied group of disorders characterized by. . . [progressive] retinal rod and cone degeneration” (Reynolds, 2001,). No single classification system has been generally accepted; one version is the following: “D Congenital RP or Leber’s Congenital Amaurosis. 2) Autosomal Recessive RP. 3) Autosomal Dominant RP. 4) X-linked or Sex-linked Recessive RP. 5) Sporadic RP. 6) RP Associated with Systemic Diseases”. Types 1 and 6 are rare; Type 5 is not familial. About 22% and 9% of RP cases are autosomal dominant and sex- linked, respectively. Most of the remaining cases appear to have an autosomal recessive basis, but RP cases do not always follow Mendelian patterns of inheritance, leading to uncertainty about their genetic basis. Overall incidence is about 1 in 4,000. Generally, rods are affected first and more severely, leading initially to loss of night and peripheral vision, although cones may become involved in advanced cases (MEDLINEplus Health Information, 2001).
A progressive disease in which the rods of the retina degenerate and become pigmented, causing progressive blindness.
Abnormal deposits of pigmentation behind the rods and cones, causing loss of color or night, central, or peripheral vision that may progress to blindness.
Progressive degeneration of the retina leading to poor vision in dim light, loss of vision to the sides, and reduced central vision. The disease takes its name from the darkly pigmented appearance of the retina in an eye examination. In many cases, blindness eventually results. No treatment is known. Wearing sunglasses to block ultraviolet light and taking antioxidants such as vitamin E may delay progression of the disease.
A group of hereditary degenerative retinal diseases marked by defective night vision followed by a progressive loss of the field of vision. Rod and cone photoreceptor degeneration is followed by degenerative changes in retinal neurons and the optic blood vessels and nerve head.
A hereditary disorder that leads to the deterioration of the rods and cones in the retina—the light-sensitive inner layer at the back of both eyes.
The initial signs of retinitis pigmentosa typically emerge during or after adolescence. These signs encompass night blindness, which refers to the struggle of seeing clearly in low light conditions. Diagnostic assessments reveal a circular region of impaired vision. This area of compromised sight gradually enlarges over several years, leading to the deterioration of a growing portion of the visual field. However, central vision often remains intact for an extended duration.
Ophthalmoscopy, a noninvasive procedure for examining the retina, shows multiple clusters of black pigment that align with the regions experiencing visual impairment. Individuals and their parents who are affected by this condition should consider seeking genetic counseling.